Variant report

Variant	nsv877694
Chromosome Location	chr3:158736714-158790162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr3:158747068-158747470	GM12878	blood:	n/a	n/a
2	ATF2	chr3:158747014-158747482	GM12878	blood:	n/a	n/a
3	BACH1	chr3:158775586-158775638	K562	blood:	n/a	n/a
4	BACH1	chr3:158775426-158775743	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr3:158747045-158747380	GM12878	blood:	n/a	chr3:158747241-158747249
6	BATF	chr3:158747128-158747374	GM12878	blood:	n/a	chr3:158747241-158747249
7	BCL11A	chr3:158747115-158747395	GM12878	blood:	n/a	n/a
8	BHLHE40	chr3:158756267-158756478	GM12878	blood:	n/a	n/a
9	CEBPB	chr3:158762718-158762980	A549	lung:	n/a	chr3:158762832-158762841 chr3:158762831-158762842 chr3:158762832-158762841 chr3:158762832-158762841 chr3:158762832-158762841
10	CEBPB	chr3:158762735-158762995	IMR90	lung:	n/a	chr3:158762832-158762841 chr3:158762831-158762842 chr3:158762832-158762841 chr3:158762832-158762841 chr3:158762832-158762841
11	CEBPB	chr3:158762700-158762852	H1-hESC	embryonic stem cell:	n/a	chr3:158762832-158762841 chr3:158762831-158762842 chr3:158762832-158762841 chr3:158762832-158762841 chr3:158762832-158762841
12	CEBPB	chr3:158762667-158763424	MCF-7	breast:	n/a	chr3:158762832-158762841 chr3:158762831-158762842 chr3:158762832-158762841 chr3:158762832-158762841 chr3:158762832-158762841
13	CEBPB	chr3:158762693-158763001	HepG2	liver:	n/a	chr3:158762832-158762841 chr3:158762831-158762842 chr3:158762832-158762841 chr3:158762832-158762841 chr3:158762832-158762841
14	CEBPB	chr3:158762692-158763375	MCF-7	breast:	n/a	chr3:158762832-158762841 chr3:158762831-158762842 chr3:158762832-158762841 chr3:158762832-158762841 chr3:158762832-158762841
15	CTCF	chr3:158743600-158743750	GM12864	blood:	n/a	n/a
16	CTCF	chr3:158744557-158744560	MCF-7	breast:	n/a	n/a
17	CTCF	chr3:158744547-158744554	MCF-7	breast:	n/a	n/a
18	CTCF	chr3:158777276-158777687	MCF-7	breast:	n/a	n/a
19	CTCF	chr3:158777306-158777453	MCF-7	breast:	n/a	n/a
20	CTCF	chr3:158744473-158744727	MCF-7	breast:	n/a	n/a
21	CTCF	chr3:158777376-158777446	LNCaP	prostate:	n/a	n/a
22	CTCF	chr3:158745654-158745696	GM10248	blood:	n/a	n/a
23	CTCF	chr3:158743664-158743740	MCF-7	breast:	n/a	n/a
24	CTCF	chr3:158777316-158777451	MCF-7	breast:	n/a	n/a
25	CTCF	chr3:158777320-158777470	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr3:158777383-158777422	GM10248	blood:	n/a	n/a
27	CTCF	chr3:158743600-158743750	NHEK	skin:	n/a	n/a
28	CTCF	chr3:158743560-158743710	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr3:158777356-158777459	Gliobla	brain:	n/a	n/a
30	CTCF	chr3:158780880-158781030	GM12864	blood:	n/a	n/a
31	CTCF	chr3:158777403-158777440	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr3:158777311-158777444	MCF-7	breast:	n/a	n/a
33	CTCF	chr3:158777355-158777400	Fibrobl	skin:	n/a	n/a
34	CTCF	chr3:158743580-158743730	HRE	kidney:	n/a	n/a
35	CTCF	chr3:158744357-158744445	Lung_OC	lung:	n/a	n/a
36	CTCF	chr3:158745838-158745842	Pancreas_OC	pancreas:	n/a	n/a
37	CTCF	chr3:158777340-158777490	Caco-2	colon:	n/a	n/a
38	CTCF	chr3:158744499-158744713	MCF-7	breast:	n/a	n/a
39	CTCF	chr3:158777277-158777569	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr3:158777300-158777450	MCF-7	breast:	n/a	n/a
41	CTCF	chr3:158777284-158777506	MCF-7	breast:	n/a	n/a
42	CTCF	chr3:158777300-158777450	AG09319	gingival:	n/a	n/a
43	CTCF	chr3:158777347-158777408	GM19240	blood:	n/a	n/a
44	CTCF	chr3:158780840-158780990	GM12869	blood:	n/a	n/a
45	CTCF	chr3:158777393-158777401	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr3:158777361-158777451	HepG2	liver:	n/a	n/a
47	CTCF	chr3:158777353-158777429	GM12892	blood:	n/a	n/a
48	CTCF	chr3:158777397-158777429	LNCaP	prostate:	n/a	n/a
49	CTCF	chr3:158777300-158777450	HCT-116	colon:	n/a	n/a
50	CTCF	chr3:158743440-158743590	GM12864	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:158786187-158786237	T-47D	breast:	n/a
2	chr3:158786187-158786237	Jurkat	blood:	n/a
3	chr3:158786242-158786292	HAEpiC	amniotic membrane:	n/a
4	chr3:158786963-158787013	SAEC	small airway:	n/a
5	chr3:158786242-158786292	GM12892	blood:	n/a
6	chr3:158786963-158787013	RPTEC	kidney:	n/a
7	chr3:158786963-158787013	HCPEpiC	choroid plexus:	n/a
8	chr3:158786242-158786292	HMEC	breast:	n/a
9	chr3:158786242-158786292	Caco-2	colon:	n/a
10	chr3:158787141-158787191	Hepatocyte	liver:	n/a
11	chr3:158786242-158786292	AG10803	skin:	n/a
12	chr3:158786193-158786243	HNPCEpiC	eye:	n/a
13	chr3:158787141-158787191	HRE	kidney:	n/a
14	chr3:158786193-158786243	H1-hESC	embryonic stem cell:	embryo
15	chr3:158786242-158786292	RPTEC	kidney:	n/a
16	chr3:158786193-158786243	RPTEC	kidney:	n/a
17	chr3:158786242-158786292	AoSMC	blood vessel:	n/a
18	chr3:158786187-158786237	NH-A	brain:	n/a
19	chr3:158786963-158787013	HRPEpiC	eye:	n/a
20	chr3:158786963-158787013	PFSK-1	brain:	n/a
21	chr3:158786187-158786237	ovcar-3	ovarian:	n/a
22	chr3:158786963-158787013	ECC-1	luminal epithelium:	n/a
23	chr3:158786242-158786292	NB4	blood:	n/a
24	chr3:158786242-158786292	HRCEpiC	kidney:	n/a
25	chr3:158786193-158786243	AG09319	gingival:	n/a
26	chr3:158786187-158786237	AG10803	skin:	n/a
27	chr3:158786193-158786243	GM12891	blood:	n/a
28	chr3:158787141-158787191	U87	brain:	n/a
29	chr3:158786242-158786292	SK-N-SH	brain:	n/a
30	chr3:158786193-158786243	AG09309	skin:	n/a
31	chr3:158786963-158787013	GM12892	blood:	n/a
32	chr3:158786193-158786243	HAEpiC	amniotic membrane:	n/a
33	chr3:158786193-158786243	SKMC	muscle:	n/a
34	chr3:158787141-158787191	RPTEC	kidney:	n/a
35	chr3:158786963-158787013	HRE	kidney:	n/a
36	chr3:158786963-158787013	NH-A	brain:	n/a
37	chr3:158787141-158787191	NH-A	brain:	n/a
38	chr3:158786187-158786237	HEEpiC	esophagus:	n/a
39	chr3:158786963-158787013	U87	brain:	n/a
40	chr3:158786193-158786243	SAEC	small airway:	n/a
41	chr3:158786242-158786292	NHDF-neo	bronchial:	n/a
42	chr3:158786963-158787013	Hepatocyte	liver:	n/a
43	chr3:158786193-158786243	K562	blood:	n/a
44	chr3:158786242-158786292	H1-hESC	embryonic stem cell:	embryo
45	chr3:158786193-158786243	HRPEpiC	eye:	n/a
46	chr3:158786193-158786243	HL-60	blood:	n/a
47	chr3:158787141-158787191	ProgFib	skin:	n/a
48	chr3:158786187-158786237	AG09309	skin:	n/a
49	chr3:158786193-158786243	SK-N-MC	brain:	n/a
50	chr3:158786187-158786237	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:158747287..158750235-chr3:158755698..158758068,2	MCF-7	breast:
2	chr3:158635419..158636195-chr3:158776837..158777566,3	MCF-7	breast:
3	chr3:158747287..158750235-chr3:158755698..158758068,2	MCF-7	breast:

Variant related genes	Relation type
IQCJ	TF binding region
IQCJ-SCHIP1	TF binding region
IQCJ	CpG island
IQCJ-SCHIP1	CpG island

Extended variants
information (count: 989 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:989 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7647847	chr3:158736714-158736715	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150842514	chr3:158736718-158736719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139317181	chr3:158736719-158736720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570695591	chr3:158736722-158736723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534925674	chr3:158736734-158736735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553247810	chr3:158736740-158736741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575032853	chr3:158736768-158736769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542164401	chr3:158736814-158736815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73874780	chr3:158736874-158736875	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs9866385	chr3:158736888-158736889	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs117471022	chr3:158736934-158736935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564607752	chr3:158736997-158736998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528286823	chr3:158737095-158737096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183895109	chr3:158737120-158737121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561918485	chr3:158737121-158737122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538884009	chr3:158737190-158737191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550317601	chr3:158737194-158737195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188426446	chr3:158737208-158737209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550515750	chr3:158737233-158737234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568781964	chr3:158737254-158737255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180886130	chr3:158737261-158737262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532977955	chr3:158737266-158737267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551051783	chr3:158737293-158737294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377125245	chr3:158737321-158737322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529653538	chr3:158737322-158737323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144189952	chr3:158737331-158737332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570194613	chr3:158737359-158737360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553158040	chr3:158737360-158737361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568701888	chr3:158737430-158737431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184918199	chr3:158737451-158737452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557660465	chr3:158737478-158737479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558816821	chr3:158737506-158737507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547880088	chr3:158737574-158737575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75567652	chr3:158737580-158737581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373860111	chr3:158737583-158737584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146070679	chr3:158737608-158737609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192304343	chr3:158737614-158737615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57989256	chr3:158737622-158737623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs112030925	chr3:158737634-158737635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77584238	chr3:158737678-158737679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573568014	chr3:158737681-158737682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561750496	chr3:158737720-158737721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182087012	chr3:158737761-158737762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566427246	chr3:158737785-158737786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542714536	chr3:158737835-158737836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533874442	chr3:158737849-158737850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201379299	chr3:158737868-158737869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187129115	chr3:158737912-158737913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562842222	chr3:158737958-158737959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551938997	chr3:158738006-158738007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158736400-158737000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:158736600-158739800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:158739600-158741000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:158740600-158741000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:158743600-158744800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:158744000-158744400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:158744000-158744400	Enhancers	HMEC	breast
8	chr3:158746000-158746400	Enhancers	HSMMtube	muscle
9	chr3:158746600-158747600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:158747600-158748000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr3:158747600-158749800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr3:158747800-158748600	Enhancers	Brain Germinal Matrix	brain
13	chr3:158748000-158748200	Enhancers	GM12878-XiMat	blood
14	chr3:158748200-158748800	Enhancers	Fetal Brain Male	brain
15	chr3:158749800-158750000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:158757600-158757800	Enhancers	Fetal Brain Female	brain
17	chr3:158757800-158763200	Weak transcription	Fetal Brain Female	brain
18	chr3:158758400-158760000	Enhancers	Fetal Brain Male	brain
19	chr3:158760000-158764600	Weak transcription	Fetal Brain Male	brain
20	chr3:158763000-158764000	Enhancers	HSMMtube	muscle
21	chr3:158763200-158763600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
22	chr3:158763200-158763800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:158763200-158763800	Enhancers	HSMM	muscle
24	chr3:158763200-158764000	Enhancers	Fetal Brain Female	brain
25	chr3:158763600-158763800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr3:158763800-158764800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:158764000-158765400	Weak transcription	Fetal Brain Female	brain
28	chr3:158764600-158764800	Enhancers	Fetal Brain Male	brain
29	chr3:158764800-158765200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:158764800-158765200	Weak transcription	Fetal Brain Male	brain
31	chr3:158765200-158765600	Enhancers	Fetal Brain Male	brain
32	chr3:158765400-158766200	Enhancers	Fetal Brain Female	brain
33	chr3:158775000-158776000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr3:158776800-158777400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:158780400-158781000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr3:158781800-158782600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:158782200-158782600	Enhancers	Fetal Brain Male	brain
38	chr3:158782600-158787000	Weak transcription	Fetal Brain Male	brain
39	chr3:158783800-158787000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:158785600-158785800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr3:158785800-158786800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr3:158786600-158786800	Active TSS	Fetal Brain Female	brain
43	chr3:158786800-158787200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr3:158786800-158787200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr3:158786800-158787200	Enhancers	Brain Germinal Matrix	brain
46	chr3:158786800-158787400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr3:158786800-158787600	Flanking Active TSS	Fetal Brain Female	brain
48	chr3:158787000-158787200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:158787000-158788000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:158787000-158788000	Active TSS	Brain Cingulate Gyrus	brain

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